Varaico: Literature-Extracted Genetic Variants

Gene:IDUA
Variant:p.L303P
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IDUA

NM_000203.5:p.L303P

Associated Papers

Epidemiology of Mucopolysaccharidoses Update.

Çelik B et al.

Diagnostics (basel, Switzerland), 2021

Which Is the Best In Silico Program for the Missense Variations in IDUA Gene? A Comparison of 33 Programs Plus a Conservation Score and Evaluation of 586 Missense Variants.

Borges P et al.

Frontiers in Molecular Biosciences, 2021

34746235 (PubMed )
Supplement: DataSheet1.xlsx › Suppl1

Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.

Zahoor MY et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

Biochemical, machine learning and molecular approaches for the differential diagnosis of Mucopolysaccharidoses.

Kadali S et al.

Molecular and Cellular Biochemistry, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."